View transcript #00000011

Transcript name serine/threonine kinase 11
Gene name STK11 (serine/threonine kinase 11)
Chromosome 19
Transcript - NCBI ID NM_000455.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000446.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
?/? 1 c.71C>T p.(Thr24Met) Hetero no r.(?) -
-/- 11i c.290+36G>T p.(=) Hetero no r.(=) -
-/- 2i c.374+24G>T p.(=) Hetero no r.(=) -
-/- 2i c.375-49G>A p.(=) Homo no r.(=) -
-/-? 3 c.426C>T p.(=) Hetero no r.(=) -
+?/+? 3i c.464+1G>A p.? Hetero N/A r.spl? -
?/? 4 c.584T>G p.(Leu195Arg) Hetero no r.(?) -
?/? 6 c.798C>T p.(=) Hetero no r.(=) -
?/+? 6 c.854T>G p.(Leu285Arg) Hetero no r.(?) This variant was found in an affected female patient (Major criteria of Peutz) without family history in Argentina.
./- 7i c.920+7G>C p.(=) Hetero no r.(=) -
./- 7i c.920+7G>C p.(=) Not available ATM r.(=) -
-/- 7i c.920+7G>C p.(=) Homo no r.(=) -
./- 7i c.920+7G>C p.(=) Hetero no r.(=) -
-/- 7i c.920+7G>C p.(=) Hetero no r.(=) -
-/- 7i c.920+7G>C p.(=) Hetero no r.(=) -
-/- 7i c.920+7G>C p.(=) Not available no r.(=) -
-/- 7i c.920+7G>C p.(=) Hetero no r.(=) -
./- 8 c.1062C>G p.(Phe354Leu) Not available no r.(?) -
-/-? 8 c.1062C>G p.(Phe354Leu) Homo BRCA2 r.(?) -
-/-? 8 c.1062C>G p.(Phe354Leu) Hetero no r.(?) -
?/? 9 c.1129G>C p.(Ala377Pro) Hetero no r.(?) -
-?/-? 9 c.1185A>G p.(=) Hetero no r.(=) -
?/? 9 c.1225C>T p.(Arg409Trp) Hetero no r.(?) -
?/? 9 c.1243C>G p.(Arg415Gly) Hetero no r.(?) -
?/? 9 c.1283C>G p.(Ser428Trp) Hetero no r.(?) -
?/? 9 c.1283C>G p.(Ser428Trp) Hetero no r.(?) -
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